ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

1

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Quantifying the contribution of recessive coding variation to developmental disorders (2018)

Martin, H. C., Jones, W. D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J. D., Jones, C. P., Handsaker, J., Gallone, G., Bruntraeger, M., McRae, J. F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E. J., Akawi, N., Balasub

American Association for the Advancement of Science (AAAS)

In: Science

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Publikationsdatum: 2018

Beschreibung: 〈p〉We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry, compared with 50% explained by de novo coding mutations. It was higher (31%) in patients with Pakistani ancestry, owing to elevated autozygosity. Half of this recessive burden is attributable to known genes. We identified two genes not previously associated with recessive developmental disorders, 〈i〉KDM5B〈/i〉 and 〈i〉EIF3F〈/i〉, and functionally validated them with mouse and cellular models. Our results suggest that recessive coding variants account for a small fraction of currently undiagnosed nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.〈/p〉

Print ISSN: 0036-8075

Digitale ISSN: 1095-9203

Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik

Publiziert von American Association for the Advancement of Science (AAAS)

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2

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Consequences of pH change on wastewater depth filtration using a multimedia filter (2018)

Ncube, Philani ; Pidou, Marc ; Stephenson, Tom ; [weitere]

Elsevier

In: Water Research. 2018; 128: 111-119. Published 2018 Jan 01. doi: 10.1016/j.watres.2017.10.040.

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Publikationsdatum: 2018-01-01

Print ISSN: 0043-1354

Digitale ISSN: 1879-2448

Thema: Energietechnik

Publiziert von Elsevier

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3

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Radiocarbon dating with a cyclotron (1979)

Stephenson, Edward J. ; Mast, Terry S. ; Muller, Richard A.

Elsevier

In: Nuclear Instruments and Methods. 1979; 158: 571-577. Published 1979 Jan 01. doi: 10.1016/s0029-554x(79)96120-2.

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Publikationsdatum: 1979-01-01

Print ISSN: 0029-554X

Digitale ISSN: 1878-3759

Thema: Energietechnik , Physik

Publiziert von Elsevier

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4

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Exploring the theory of plate tectonics: the role of mantle lithosphere structure (2018)

Heron, P. J., Pysklywec, R. N., Stephenson, R.

Geological Society of London

In: Geological Society, London, Special Publications

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Publikationsdatum: 2018

Beschreibung: 〈p〉This review of the role of the mantle lithosphere in plate tectonic processes collates a wide range of recent studies from seismology and numerical modelling. A continually growing catalogue of deep geophysical imaging has illuminated the mantle lithosphere and generated new interpretations of how the lithosphere evolves. We review current ideas about the role of continental mantle lithosphere in plate tectonic processes. Evidence seems to be growing that scarring in the continental mantle lithosphere is ubiquitous, which implies a reassessment of the widely held view that it is the inheritance of crustal structure only (rather than the lithosphere as a whole) that is most important in the conventional theory of plate tectonics (e.g. the Wilson cycle). Recent studies have interpreted mantle lithosphere heterogeneities to be pre-existing structures and, as such, linked to the Wilson cycle and inheritance. We consider the current fundamental questions in the role of the mantle lithosphere in causing tectonic deformation, reviewing recent results and highlighting the potential of the deep lithosphere in infiltrating every aspect of plate tectonics processes.〈/p〉

Print ISSN: 0375-6440

Digitale ISSN: 2041-4927

Thema: Geologie und Paläontologie

Publiziert von Geological Society of London

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5

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Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors (2018)

Young, M. D., Mitchell, T. J., Vieira Braga, F. A., Tran, M. G. B., Stewart, B. J., Ferdinand, J. R., Collord, G., Botting, R. A., Popescu, D.-M., Loudon, K. W., Vento-Tormo, R., Stephenson, E., Cagan, A., Farndon, S. J., Del Castillo Velasco-Herrera, M., Guzzo, C., Richoz, N., Mamanova, L., Aho, T., Armitage, J. N., Riddick, A. C. P., Mushtaq, I., Farrell, S., Rampling, D., Nicholson, J., Filby, A., Burge, J., Lisgo, S., Maxwell, P. H., Lindsay, S., Warren, A. Y., Stewart, G. D., Sebire, N., Coleman, N., Haniffa, M., Teichmann, S. A., Clatworthy, M., Behjati, S.

American Association for the Advancement of Science (AAAS)

In: Science

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Publikationsdatum: 2018-08-10

Beschreibung: Messenger RNA encodes cellular function and phenotype. In the context of human cancer, it defines the identities of malignant cells and the diversity of tumor tissue. We studied 72,501 single-cell transcriptomes of human renal tumors and normal tissue from fetal, pediatric, and adult kidneys. We matched childhood Wilms tumor with specific fetal cell types, thus providing evidence for the hypothesis that Wilms tumor cells are aberrant fetal cells. In adult renal cell carcinoma, we identified a canonical cancer transcriptome that matched a little-known subtype of proximal convoluted tubular cell. Analyses of the tumor composition defined cancer-associated normal cells and delineated a complex vascular endothelial growth factor (VEGF) signaling circuit. Our findings reveal the precise cellular identities and compositions of human kidney tumors.

Schlagwort(e): Development, Medicine, Diseases

Print ISSN: 0036-8075

Digitale ISSN: 1095-9203

Thema: Biologie , Chemie und Pharmazie , Geologie und Paläontologie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik

Publiziert von American Association for the Advancement of Science (AAAS)

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6

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Arylsulfonylacetamides as bifunctional reagents for alkene aminoarylation (2018)

Monos, T. M., McAtee, R. C., Stephenson, C. R. J.

American Association for the Advancement of Science (AAAS)

In: Science

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Publikationsdatum: 2018-09-28

Beschreibung: Alkene aminoarylation with a single, bifunctional reagent is a concise synthetic strategy. We report a catalytic protocol for the addition of arylsulfonylacetamides across electron-rich alkenes with complete anti-Markovnikov regioselectivity and excellent diastereoselectivity to provide 2,2-diarylethylamines. In this process, single-electron alkene oxidation enables carbon-nitrogen bond formation to provide a key benzylic radical poised for a Smiles-Truce 1,5-aryl shift. This reaction is redox-neutral, exhibits broad functional group compatibility, and occurs at room temperature with loss of sulfur dioxide. As this process is driven by visible light, uses readily available starting materials, and demonstrates convergent synthesis, it is well suited for use in a variety of synthetic endeavors.

Schlagwort(e): Chemistry

Print ISSN: 0036-8075

Digitale ISSN: 1095-9203

Thema: Biologie , Chemie und Pharmazie , Geologie und Paläontologie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik

Publiziert von American Association for the Advancement of Science (AAAS)

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7

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Quantifying the contribution of recessive coding variation to developmental disorders (2018)

Martin, H. C., Jones, W. D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J. D., Jones, C. P., Handsaker, J., Gallone, G., Bruntraeger, M., McRae, J. F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E. J., Akawi, N., Balasub

American Association for the Advancement of Science (AAAS)

In: Science First Release

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Publikationsdatum: 2018

Beschreibung: 〈p〉We estimated the genome-wide contribution of recessive coding variation from 6,040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry, compared to 50% explained by de novo coding mutations. It was higher (31%) in patients with Pakistani ancestry, due to elevated autozygosity. Half of this recessive burden is attributable to known genes. We identified two genes not previously associated with recessive developmental disorders, 〈i〉KDM5B〈/i〉 and 〈i〉EIF3F〈/i〉, and functionally validated them with mouse and cellular models. Our results suggest that recessive coding variants account for a small fraction of currently undiagnosed non-consanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.〈/p〉

Print ISSN: 0036-8075

Digitale ISSN: 1095-9203

Thema: Allgemeine Naturwissenschaft

Publiziert von American Association for the Advancement of Science (AAAS)

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8

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Quantifying the contribution of recessive coding variation to developmental disorders (2018)

Martin, H. C., Jones, W. D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J. D., Jones, C. P., Handsaker, J., Gallone, G., Bruntraeger, M., McRae, J. F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E. J., Akawi, N., Balasubramanian, M., Dean, J., Horton, R., Hulbert, A., Johnson, D. S., Johnson, K., Kumar, D., Lynch, S. A., Mehta, S. G., Morton, J., Parker, M. J., Splitt, M., Turnpenny, P. D., Vasudevan, P. C., Wright, M., Bassett, A., Gerety, S. S., Wright, C. F., Fitz; Patrick, D. R., Firth, H. V., Hurles, M. E., Barrett, J. C., on behalf of the Deciphering Developmental Disorders Study

American Association for the Advancement of Science (AAAS)

In: Science

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Publikationsdatum: 2018-12-07

Beschreibung: We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in patients of European ancestry, compared with 50% explained by de novo coding mutations. It was higher (31%) in patients with Pakistani ancestry, owing to elevated autozygosity. Half of this recessive burden is attributable to known genes. We identified two genes not previously associated with recessive developmental disorders, KDM5B and EIF3F , and functionally validated them with mouse and cellular models. Our results suggest that recessive coding variants account for a small fraction of currently undiagnosed nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.

Schlagwort(e): Genetics, Medicine, Diseases

Print ISSN: 0036-8075

Digitale ISSN: 1095-9203

Thema: Biologie , Chemie und Pharmazie , Geologie und Paläontologie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik

Publiziert von American Association for the Advancement of Science (AAAS)

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9

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Integrate Urban‐Scale Seismic Hazard Analyses with the U.S. National Seismic Hazard Model (2018)

Moschetti, M. P. ; Luco, N. ; Frankel, A. D. ; [weitere]

Seismological Society of America

In: Seismological Research Letters. 2018; 89(3): 967-970. Published 2018 Feb 28. doi: 10.1785/0220170261.

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Publikationsdatum: 2018-02-28

Print ISSN: 0895-0695

Digitale ISSN: 1938-2057

Thema: Geologie und Paläontologie

Publiziert von Seismological Society of America

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10

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Holocene Fault Reactivation in the Eastern Cascades, Washington (2018)

Carlson, Benjamin M. ; Schermer, Elizabeth R. ; Amos, Colin B. ; [weitere]

Seismological Society of America

In: Bulletin of the Seismological Society of America. 2018; 108(5A): 2614-2633. Published 2018 Aug 21. doi: 10.1785/0120170228.

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Publikationsdatum: 2018-08-21

Beschreibung: Significant uncertainty remains concerning how and where crustal shortening occurs throughout the eastern Cascade Range in Washington State. Using light detection and ranging (lidar) imagery, we identified an ∼5‐km‐long lineament in Swakane canyon near Wenatchee, roughly coincident with a strand of the Entiat fault. Topographic profiles across the lineament reveal a southwest‐side‐up break in slope, with an average of 2–3 m of vertical separation of the hillslope surface. We consider a range of possible origins for this feature, including differential erosion across a fault‐line scarp, slope failure (sackung or landslide), and surface deformation across an active fault strand. Based on trenching, radiocarbon and luminescence dating, and ground‐penetrating radar (GPR) across the lineament, we conclude that warped saprolite observed in the shallow subsurface is most consistent with southwest‐side‐up folding caused by blind reverse faulting at depth. Following this reasoning, dating of overlying colluvial deposits suggests that at least one Holocene earthquake occurred on this strand of the southern Entiat fault, with an approximate vertical separation of ≥1 m. GPR reveals up to 4 m of cumulative vertical separation of the saprolite, suggesting a history of multiple earthquakes on the structure. Taken in context with other potential fault‐related lineaments along the Entiat fault, our interpretation of Holocene earthquakes in Swakane canyon could suggest reactivation of longer sections of the Entiat fault, as well as of other bedrock faults in the eastern Cascades. Although active erosion and slow strain rates lead to a subdued geomorphic expression of recent deformation, we conclude that the reactivated Entiat fault represents a seismogenic structure that should be considered in regional seismic hazard analyses. The difficulty of recognizing low‐slip‐rate structures in forested and mountainous terrain underscores the importance of additional lidar surveys and geological and geophysical studies for fully understanding seismic hazard in regions with infrequent but potentially large earthquakes.

Print ISSN: 0037-1106

Digitale ISSN: 1943-3573

Thema: Geologie und Paläontologie , Physik

Publiziert von Seismological Society of America

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